Gene Therapies for CMT

Gene therapies are a means to treat disease by modifying the genetic machinery of cells in the body. The goal is to target the underlying genetic cause of disease, which can be accomplished via repair of a genetic defect or replacement of missing or defective genes with healthy, fully functional ones. This in turn enables the normal expression and function of critical proteins.
There are a number of different types of gene therapy. Some of those under development right now include:
- Gene Editing is a precise method of targeting a gene mutation by inserting, removing, or replacing specific pieces of DNA within the faulty gene itself.
- Gene Knockdown, or the reduction of gene expression resulting in reduced protein production, can be achieved during the protein manufacturing process during either transcription or translation via a strategy known as RNA interference (RNAi).
- Gene Replacement is a technique in which the addition of a new, working copy of a gene into target cells serves as a healthy replacement for a missing or mutated gene. The new gene is manufactured in the laboratory and transported to the nucleus of targeted cells, where its code can be read and its instructions for protein production implemented. This type of therapy may be used in loss-of-function disorders caused by a missing or defective gene and the subsequent deficiency or insufficiency of that gene’s normal product. The introduction of the healthy gene is intended to result in production of a sufficient amount of properly functioning protein.
Transportation of genetic material to target cells is an incredibly important part of the gene therapy approach. Small viruses often serve as vectors, or transport vehicles, capable of delivering genetic material “cargo” to its destination either into a cell’s existing DNA or into its nucleus. Many scientists currently are working with adeno-associated viral (AAV) vectors, which are able to penetrate the cell’s nucleus and aren’t known to cause diseases in people. However, their small size limits the amount of genetic material they can carry.
Risks are inherent with any treatment, and gene therapy is no exception. However, it likely won’t be possible to “turn off” gene therapy, which is why it’s critical to study methods of administration, the genetic material to be delivered or altered, a patient’s disease stage and other aspects of his or her genetic makeup.
CMT Research Foundation is leading the charge to ensure safe and effective therapies for all forms of CMT make it to the market to help those living with CMT today. We are working every day to support the families, the foundations, the academics, the scientists, the biotechs and the pharma companies who share our goal and who are working to make it happen.
Related News & Research
Because of Luca: A Family’s Fight Against CMT
Tara, Luca, Liam and Lane, Louisiana, Living With CMT When Luca Haik was just four years old, his mother, Tara, sensed something wasn’t right. “Luca came home from school every day crying in pain, rushing to take off his socks and shoes saying that his feet ‘felt...
Dr. Alessandra Bolino Unravels Complexities and Tests Treatment Strategies in CMT4B1
CMT4B1 is a severe form of Charcot-Marie-Tooth disease caused by mutations in the gene that makes Myotubularin-related protein 2 (MTMR2). Dr. Alessandra Bolino, PhD, discovered that mutations in this gene affect the production of fats, called phospholipids. Among...
OHio, What a Night: Lighting a Path to a Cure for Charcot-Marie-Tooth Disease
On Thursday, April 10, more than 120 patients, scientists, clinicians and pharma companies gathered in Columbus, Ohio for OHio, What a Night — an unforgettable evening dedicated to accelerating research and developing treatments and cures for Charcot-Marie-Tooth...
82VS Progressing Ahead of Schedule in CMTRF-Funded Project to Improve Oligonucleotide Drug Delivery for CMT
Since launching their collaboration with CMT Research Foundation in November 2024, researchers at 82VS, the venture studio of Alloy Therapeutics, have made rapid progress and are ahead of schedule testing their novel technology focused on improving RNA therapeutic...
Initial CMTRF Funding Leads Augustine Therapeutics to Raise $85 Million for CMT Clinical Trials
CMT Research Foundation funded partner Augustine Therapeutics recently announced that they completed their Series A financing round and raised $85 million, which will be used to advance their Charcot-Marie-Tooth disease drug candidate, AGT-100216, through a Phase I/II...
More Than Just a Rare Disease: Jodi Balog’s Journey With CMT
Jodi Balog, Pennsylvania, Living With CMT Jodi Balog has lived with Charcot-Marie-Tooth disease for more than 30 years. Diagnosed at the age of 13, CMT has become all she’s ever known. While CMT is classified as a rare disease, for Jodi — and millions of others — it’s...
Dr. Afrooz Rashnonejad Joins CMTRF’s Scientific Advisory Board
CMT Research Foundation is pleased to announce that Dr. Afrooz Rashnonejad has joined the Foundation’s Scientific Advisory Board. The SAB is composed of distinguished scientific and clinical experts specializing in Charcot-Marie-Tooth disease and drug development. The...
NMD Pharma Announces FDA Orphan Drug Designation for NMD670
NMD Pharma has announced that they have been granted orphan drug designation by the Food and Drug Administration for NMD670, their novel, oral, small molecule inhibitor of the skeletal muscle-specific chloride ion channel ClC-1, for the treatment of...
Maintaining Momentum: CMTRF’s Vision for 2025 and Beyond
Greetings and Happy New Year to you all. When I began my tenure as CEO of the CMT Research Foundation in October 2024, I was immediately inspired and impressed by the work of the Foundation. I was equally moved by the dedication of the greater CMT community,...
NMD Pharma Publishes Findings Supporting the Role of ClC-1 Inhibition in Charcot-Marie-Tooth Disease
NMD Pharma announced that they have published new clinical and preclinical data that provides evidence that targeting neuromuscular junction deficits could potentially improve muscle function in CMT patients. The peer-reviewed paper titled “Neuromuscular Transmission...